BLOC1S6 Chromosome 15
Biogenesis of lysosomal organelles complex 1 subunit 6
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What This Gene Does
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 1 subunits
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000104164
Associated Conditions (4)
Hermansky-Pudlak syndrome 9
Hermansky-Pudlak syndrome
BLOC1S6-related disorder
Inborn genetic diseases
Key Variants
RS2140918991
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome, BLOC1S6-related disorder
Health Risk
RS564232908
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 9, Inborn genetic diseases, Hermansky-Pudlak syndrome 9
Health Risk
RS574333116
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 9, Inborn genetic diseases, Hermansky-Pudlak syndrome 9
Health Risk
RS1194283484
Likely pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS1595560288
Likely pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS2542261623
Likely pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS2542261887
Likely pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS2542297010
Likely pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS756480888
Likely pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS1227395094
Pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS1894328064
Pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
Health Risk
RS201348482
Pathogenic
Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 9
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140918991 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome, BLOC1S6-related disorder |
| RS564232908 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 9, Inborn genetic diseases, Hermansky-Pudlak syndrome 9 |
| RS574333116 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 9, Inborn genetic diseases, Hermansky-Pudlak syndrome 9 |
| RS1194283484 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS1595560288 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542261623 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542261887 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542297010 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS756480888 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS1227395094 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS1894328064 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS201348482 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 9 |
| RS2140918945 | Health Risk | Pathogenic | — |
| RS2542261519 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542270996 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542271252 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542271399 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542292506 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS2542292733 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS749555560 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |
| RS762974622 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 9 |
| RS772475341 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9 |